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A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family.
Glöcklhofer, Christina R; Steinfurt, Johannes; Franke, Gerlind; Hoppmann, Anselm; Glantschnig, Theresa; Perez-Feliz, Stefanie; Alter, Svenja; Fischer, Judith; Brunner, Michael; Rainer, Peter P; Köttgen, Anna; Bode, Christoph; Odening, Katja E.
Afiliação
  • Glöcklhofer CR; Department of Cardiology and Angiology I, Heart Center University of Freiburg, Hugstetter Str. 55, Freiburg, Germany.
  • Steinfurt J; Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Franke G; Department of Cardiology and Angiology I, Heart Center University of Freiburg, Hugstetter Str. 55, Freiburg, Germany.
  • Hoppmann A; Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Glantschnig T; Department of Cardiology and Angiology I, Heart Center University of Freiburg, Hugstetter Str. 55, Freiburg, Germany.
  • Perez-Feliz S; Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Alter S; Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Fischer J; Institute of Genetic Epidemiology, Medical Center University of Freiburg, Freiburg, Germany.
  • Brunner M; Genetics and Experimental Bioinformatics, Faculty of Biology, University of Freiburg, Freiburg, Germany.
  • Rainer PP; Division of Cardiology, Medical University of Graz, Graz, Austria.
  • Köttgen A; Department of Cardiology and Angiology I, Heart Center University of Freiburg, Hugstetter Str. 55, Freiburg, Germany.
  • Bode C; Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Odening KE; Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Europace ; 20(12): 2003-2013, 2018 12 01.
Article em En | MEDLINE | ID: mdl-29947763
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Arritmias Cardíacas / Cardiomiopatia Dilatada / Morte Súbita Cardíaca / Códon sem Sentido / Lamina Tipo A Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Arritmias Cardíacas / Cardiomiopatia Dilatada / Morte Súbita Cardíaca / Códon sem Sentido / Lamina Tipo A Idioma: En Ano de publicação: 2018 Tipo de documento: Article